Search Results - "Chkioua, L."

The mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients by Chkioua, L, Grissa, O, Leban, N, Gribaa, M, Boudabous, H, Turkia, H Ben, Ferchichi, S, Tebib, N, Laradi, S

“…Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate…”
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Mutations and polymorphisms in N-acetylgalactosamine-6-sulfate sulfatase gene in Turkish Morquio A patients by Khedhiri, S., Chkioua, L., Elcioglu, N., Laradi, S., Miled, A.

“…Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive inherited metabolic disease resulting from deficiency of N-acetylgalactosamine-6-sulfatase…”
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Mucopolysaccharidosis type IV: N-Acetylgalactosamine-6-sulfatase mutations in Tunisian patients by Laradi, S., Tukel, T., Khediri, S., Shabbeer, J., Erazo, M., Chkioua, L., Chaabouni, M., Ferchichi, S., Miled, A., Desnick, R.J.

“…Mucopolysaccharidosis type IVA (MPS IVA; OMIM #253000) or Morquio A syndrome is an autosomal recessive inborn error resulting from the deficient activity of…”
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Mucopolysaccharidosis IVA within Tunisian patients: Confirmation of the two novel GALNS gene mutations by Khedhiri, S., Chkioua, L., Bouzidi, H., Dandana, A., Ferchichi, S., Ben Turkia, H., Miled, A., Laradi, S.

“…Mucopolysaccharidosis type IVA or Morquio A disease is an autosomal recessive disease resulting from a deficiency of the lysosomal enzyme…”
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Mucopolysaccharidosis I: α‐L‐Iduronidase mutations in three Tunisian families by Laradi, S., Tukel, T., Erazo, M., Shabbeer, J., Chkioua, L., Khedhiri, S., Ferchichi, S., Chaabouni, M., Miled, A., Desnick, R. J.

“…Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α‐L‐iduronidase (IDUA). The disease has…”
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Study of the intronic polymorphism of the angiotensin 1 converting enzyme among coronary Tunisians by Chalghoum, A, Noichri, Y, Chkioua, L, Gammoudi, I, Dandana, A, Chahed, H, Khelil, S, Jeridi, G, Baudin, B, Ferchichi, S, Miled, A

“…The acute coronary syndromes (ACS) are classified among the major causes of mortality in the industrialized countries. The increased angiotensin I converting…”
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Mucopolysaccharidosis type I: identification of alpha-L-iduronidase mutations in Tunisian families by Chkioua, L, Khedhiri, S, Jaidane, Z, Ferchichi, S, Habib, S, Froissart, R, Bonnet, V, Chaabouni, M, Dandana, A, Jrad, T, Limem, H, Maire, I, Abdelhedi, M, Laradi, S

“…Mucopolysaccharidosis type I (MPS I) is a lysosomal disease due to mutations in the gene encoding alpha-l-iduronidase (IDUA) leading to variable clinical…”
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Mucopolysaccharidoses type I and IVA: Clinical features and consanguinity in Tunisia by Khedhiri, S., Chkioua, L., Bouzidi, H., Dandana, A., Ben Turkia, H., Miled, A., Laradi, S.

“…Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by the deficiency of specific enzymes which leads to the lysosomal accumulation…”
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Biochemical and molecular diagnosis of Gaucher disease in Tunisia by Dandana, A, Ferchichi, S, Khedhiri, S, Chkioua, L, Jaidane, Z, Monastiri, K, Ben Khelifa, S, Ben Mansour, R, Maire, I, Froissart, R, Bonnet, V, Laradi, S, Miled, A

“…Our study was carried out at a family from the Sahel (Tunisia). The father (index case) and his two children (son and daughter). The father…”
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Clinical, biologic and molecular characteristics of two Tunisian MPS IV A patients by Khedhiri, S, Chkioua, L, Ferchichi, S, Bouzidi, H, Haj Khelil, A, Ben Mansour, R, Kassab, A, M'dallah, S, Chaabouni, M, Jrad, T, Ben Chibani, J, Miled, A, Laradi, S

“…Mucopolysaccharidosis type IV A (MPS IV A) is an autosomal recessive disorder resulting from the deficient activity of the lysosomal enzyme,…”
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Diagnostic strategy of mucopolysaccharidosis type I in Tunisia by Chkioua, L, Ferchichi, S, Khedhiri, S, Laradi, S, Bibi, A, Amira, D, Dandana, A, Ben Mansour, R, Ben Limam, H, Chaabouni, M, Froissart, R, Maire, I, Miled, A

“…A Tunisian patient affected by mucopolysaccharidosis (MPS) was investigated for a biological analysis (quantitative and qualitative glycosaminoglycans (GAG)…”
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Molecular analysis of the p.Asn 370 Ser mutation in Gaucher disease by Dandana, A, Ferchichi, S, Ben Khelifa, S, Jaidane, Z, Monastiri, K, Chkioua, L, Maire, I, Froissart, R, Bonnet, V, Laradi, S, Miled, A

“…Gaucher disease is one of the most prevalent lysosomal disorders. In this present study, we report a diagnostic strategy of type 1 Gaucher disease. The…”
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Étude du polymorphisme intronique de l’enzyme de conversion de l’angiotensine I chez des coronariens tunisiens by Chalghoum, A., Noichri, Y., Chkioua, L., Gammoudi, I., Dandana, A., Chahed, H., Khelil, S., Jeridi, G., Baudin, B., Ferchichi, S., Miled, A.

“…Les syndromes coronariens aigus (SCA) sont classés parmi les causes majeures de mortalité dans les pays industrialisés. L’élévation de l’activité de l’enzyme…”
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La mucopolysaccharidose de type I : identification des mutations du gène alpha-L-iduronidase dans des familles tunisiennes by Chkioua, L., Khedhiri, S., Jaidane, Z., Ferchichi, S., Habib, S., Froissart, R., Bonnet, V., Chaabouni, M., Dandana, A., Jrad, T., Limem, H., Maire, I., Abdelhedi, M., Laradi, S.

“…La mucopolysaccharidose de type I (MPS I) est une maladie de surcharge lysosomale, due au déficit en α-L-iduronidase (IDUA). C'est une maladie grave avec un…”
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Analyse moléculaire de la mutation p.Asn 370 Ser dans la maladie de Gaucher by Dandana, A., Ferchichi, S., Ben Khelifa, S., Jaidane, Z., Monastiri, K., Chkioua, L., Maire, I., Froissart, R., Bonnet, V., Laradi, S., Miled, A.

“…La maladie de Gaucher est la plus fréquente des maladies génétiques lysosomales. Dans cette étude, nous avons essayé d’appliquer une stratégie diagnostique de…”
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Prenatal diagnosis of the Hurler syndrome by microsatellite markers analysis by Chkioua, L., Ferchichi, S., Khedhiri, S., Jaidane, Z., Chahed, H., Wesleti, S., Froissart, R., Maire, I., Laradi, S., Miled, A.

“…Hurler's syndrome or mucopolysaccharidosis type IH (MPS IH) is the most severe form of mucopolysaccharidosis type I (MPS I). It is caused by the deficiency of…”
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Mucopolysaccharidosis I: [alpha]-L-Iduronidase mutations in three Tunisian families by Laradi, S, Tukel, T, Erazo, M, Shabbeer, J, Chkioua, L, Khedhiri, S, Ferchichi, S, Chaabouni, M, Miled, A, Desnick, R J

“…Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease resulting from the defective activity of the enzyme α-L-iduronidase (IDUA). The disease has…”
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Prenatal diagnosis of the Hurler syndrome by microsatellite markers analysis by CHKIOUA, L, FERCHICHI, S, KHEDHIRI, S, JAIDANE, Z, CHAHED, H, WESLETI, S, FROISSART, R, MAIRE, I, LARADI, S, MILED, A

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Étude de l’enzyme de conversion de l’angiotensine I et de l’hyperhomocystéinémie chez les coronariens tunisiens by Chalghoum, A., Noichri, Y., Jaidane, Z., Gammoudi, I., Chahed, H., Dandana, A., Khelil, S., Chkioua, L., Chaabouni, Y., Jeridi, G., Ferchichi, S., Miled, A.

“…The acute coronary syndromes (ACS) are polygenic and complex pathologies. The increase of angiotensin I converting enzyme (ACEI) activity and homocysteinemia…”
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Report of a case of Lyell syndrome by Ferchichi, S, Kassab-Chekir, A, Laradi, S, Amira, D, Jaidane, Z, Chahed, H, Chahed, E, Chkioua, L, Ben Limam, H, Bouchoucha, S, Miled, A

“…Toxic epidermal necrolysis (TEN) is a rare drug-induced disease characterized by extensive epidermal destruction. We reported here a case of Lyell syndrome…”
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